Incidental Mutation 'R3438:Lhx4'
ID 267267
Institutional Source Beutler Lab
Gene Symbol Lhx4
Ensembl Gene ENSMUSG00000026468
Gene Name LIM homeobox protein 4
Synonyms Gsh4, Gsh-4, A330062J17Rik
MMRRC Submission 040656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3438 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155573777-155627430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155578230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 304 (D304V)
Ref Sequence ENSEMBL: ENSMUSP00000027740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027740] [ENSMUST00000195275]
AlphaFold P53776
PDB Structure The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027740
AA Change: D304V

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027740
Gene: ENSMUSG00000026468
AA Change: D304V

DomainStartEndE-ValueType
LIM 29 80 3.39e-17 SMART
LIM 88 143 2.76e-17 SMART
HOX 157 219 5.79e-23 SMART
low complexity region 306 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195275
SMART Domains Protein: ENSMUSP00000141662
Gene: ENSMUSG00000026468

DomainStartEndE-ValueType
LIM 27 82 1.3e-19 SMART
HOX 96 158 2.8e-25 SMART
Meta Mutation Damage Score 0.0769 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mutations in this gene result in abnormal lung development and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik A G 3: 40,575,673 (GRCm39) noncoding transcript Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Ampd3 T C 7: 110,402,433 (GRCm39) I479T probably damaging Het
Aoah G A 13: 21,101,242 (GRCm39) R254K probably benign Het
Appbp2 T C 11: 85,088,966 (GRCm39) E358G probably damaging Het
Col6a5 A G 9: 105,752,991 (GRCm39) S2294P possibly damaging Het
Cux1 T C 5: 136,340,414 (GRCm39) E632G probably damaging Het
Cyp7a1 T C 4: 6,272,769 (GRCm39) N148S probably damaging Het
Dgkz A T 2: 91,764,395 (GRCm39) probably benign Het
Dlgap1 A T 17: 70,823,356 (GRCm39) S114C probably damaging Het
Dmtn T A 14: 70,850,156 (GRCm39) I263F probably damaging Het
Gigyf2 C A 1: 87,368,302 (GRCm39) H1029N probably damaging Het
Gm10770 T A 2: 150,021,469 (GRCm39) probably null Het
Gnb1l A G 16: 18,371,117 (GRCm39) T203A probably benign Het
Kng2 T C 16: 22,830,821 (GRCm39) I163V probably benign Het
Lamc1 T C 1: 153,102,161 (GRCm39) D1479G probably benign Het
Larp7-ps A C 4: 92,079,919 (GRCm39) V23G possibly damaging Het
Mybl1 G T 1: 9,757,870 (GRCm39) T143K probably damaging Het
Notch3 C T 17: 32,372,564 (GRCm39) C630Y probably damaging Het
Oas1e T C 5: 120,933,475 (GRCm39) E30G probably damaging Het
Or4c114 T C 2: 88,904,707 (GRCm39) I243V probably benign Het
Or8b55 T G 9: 38,727,512 (GRCm39) F238V probably damaging Het
Or9e1 G T 11: 58,732,698 (GRCm39) G253* probably null Het
Otoa A G 7: 120,759,566 (GRCm39) E1056G possibly damaging Het
Plin4 A G 17: 56,414,193 (GRCm39) V144A probably benign Het
Sec16b T C 1: 157,384,328 (GRCm39) probably benign Het
Stk31 A G 6: 49,414,455 (GRCm39) S485G probably benign Het
Tanc2 C T 11: 105,748,401 (GRCm39) P511L probably damaging Het
Utrn T C 10: 12,357,062 (GRCm39) D309G probably damaging Het
Vpreb3 C T 10: 75,779,056 (GRCm39) probably benign Het
Vsx2 A T 12: 84,616,985 (GRCm39) Q90L probably damaging Het
Other mutations in Lhx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:Lhx4 APN 1 155,580,934 (GRCm39) missense possibly damaging 0.90
IGL02516:Lhx4 APN 1 155,578,003 (GRCm39) missense probably damaging 1.00
IGL02806:Lhx4 APN 1 155,577,975 (GRCm39) missense probably benign 0.22
IGL03104:Lhx4 APN 1 155,580,967 (GRCm39) missense probably damaging 1.00
R3434:Lhx4 UTSW 1 155,578,147 (GRCm39) missense probably damaging 0.99
R4369:Lhx4 UTSW 1 155,580,560 (GRCm39) missense probably benign 0.01
R4392:Lhx4 UTSW 1 155,585,880 (GRCm39) missense probably damaging 1.00
R4873:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R4875:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R5937:Lhx4 UTSW 1 155,586,023 (GRCm39) missense probably damaging 1.00
R6329:Lhx4 UTSW 1 155,578,300 (GRCm39) missense probably benign 0.00
R6694:Lhx4 UTSW 1 155,580,456 (GRCm39) missense probably benign 0.05
R7212:Lhx4 UTSW 1 155,600,699 (GRCm39) missense probably benign 0.01
R7418:Lhx4 UTSW 1 155,586,005 (GRCm39) missense probably damaging 1.00
R7653:Lhx4 UTSW 1 155,580,617 (GRCm39) missense probably damaging 1.00
R7900:Lhx4 UTSW 1 155,617,709 (GRCm39) intron probably benign
R8210:Lhx4 UTSW 1 155,586,214 (GRCm39) splice site probably null
R8510:Lhx4 UTSW 1 155,578,047 (GRCm39) missense probably damaging 1.00
R8889:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R8892:Lhx4 UTSW 1 155,581,013 (GRCm39) missense possibly damaging 0.90
R9300:Lhx4 UTSW 1 155,580,956 (GRCm39) missense probably damaging 1.00
R9322:Lhx4 UTSW 1 155,578,353 (GRCm39) missense probably benign 0.00
R9532:Lhx4 UTSW 1 155,586,024 (GRCm39) missense probably damaging 1.00
Z1176:Lhx4 UTSW 1 155,581,001 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGGGCTAGTTGGAAAATC -3'
(R):5'- CCTGGGCACTGACAATAAATCTC -3'

Sequencing Primer
(F):5'- TACACTGCTTCCTGTCGAGAGG -3'
(R):5'- GGGCACTGACAATAAATCTCCGTTC -3'
Posted On 2015-02-18